| Primary Identifier | MGI:104686 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 12929 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables signaling adaptor activity. Involved in several processes, including positive regulation of Rac protein signal transduction; positive regulation of skeletal muscle acetylcholine-gated channel clustering; and postsynaptic specialization assembly. Acts upstream of or within several processes, including cell surface receptor signaling pathway; circulatory system development; and nervous system development. Located in synapse. Part of protein-containing complex. Is active in neuromuscular junction. Is extrinsic component of postsynaptic membrane. Is expressed in several structures, including branchial arch; central nervous system; genitourinary system; immune system; and musculature. Used to study DiGeorge syndrome and velocardiofacial syndrome. Human ortholog(s) of this gene implicated in chronic myeloid leukemia. Orthologous to human CRKL (CRK like proto-oncogene, adaptor protein). PHENOTYPE: Mice homozygous for a null allele exhibit fetal lethality, a range of cardiac malformations, defects in thymus and parathyroid development, and craniofacial malformation. Homozygotes for an ENU-induced splice-site mutation exhibit a variable phenotype that includes micrognathia, pharyngeal occlusion, aglossia, and holoprosencephaly. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
